Barber Say syndrome
Barber Say Syndrome
Barber Say Syndrome (pronounced: bar-ber say sin-drome), also known as Hypertrichosis Atrophic Skin Ectropion Macrostomia is a rare genetic disorder characterized by a range of distinctive physical features.
Etymology
The syndrome is named after the two doctors, Dr. Barber and Dr. Say, who first described the condition in medical literature in 1982.
Symptoms
The primary symptoms of Barber Say Syndrome include hypertrichosis, which is an excessive growth of hair on the body; atrophic skin, which is thin, wrinkled, and transparent skin; ectropion, which is a condition where the lower eyelids turn outward; and macrostomia, which is an unusually large mouth. Other symptoms may include hypertelorism (widely spaced eyes), hypoplasia of the superior maxilla and nail dystrophy.
Causes
Barber Say Syndrome is caused by mutations in the TWIST2 gene. This gene provides instructions for making a protein that is involved in the development of the skin, hair, and certain types of tissue. The mutation disrupts the normal development of these areas, leading to the symptoms of Barber Say Syndrome.
Diagnosis
Diagnosis of Barber Say Syndrome is based on a clinical examination of the physical symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the TWIST2 gene.
Treatment
Treatment for Barber Say Syndrome is symptomatic and supportive. This may include surgery to correct ectropion and macrostomia, and dermatological treatments for the skin and hair symptoms.
Prognosis
The prognosis for individuals with Barber Say Syndrome varies. The condition does not typically affect lifespan, but the severity of symptoms can vary between individuals.
See Also
External links
- Medical encyclopedia article on Barber Say syndrome
- Wikipedia's article - Barber Say syndrome
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